List of works - Tom Walsh

A combined analysis of D22S278 marker alleles in affected sib-pairs: support for a susceptibility locus for schizophrenia at chromosome 22q12. Schizophrenia Collaborative Linkage Group (Chromosome 22).

scientific article published on February 1996

A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation

scientific article published on 7 August 2014

A mosaic PTEN mutation causing Cowden syndrome identified by deep sequencing

scientific article

A mouse model for human hearing loss DFNB30 due to loss of function of myosin IIIA

scientific journal article

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

scientific article

A truncating mutation in GPSM2 is associated with recessive non-syndromic hearing loss

scientific article published on 15 March 2011

Accurate and exact CNV identification from targeted high-throughput sequence data

scientific article

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

scientific article

Actionable, pathogenic incidental findings in 1,000 participants' exomes

scientific article published on 19 September 2013

Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X).

scientific article published on 30 May 2014

BRCA1 and BRCA2 Mutations in Ovarian Cancer

scientific article published in The Journal of the American Medical Association

BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma

scientific article published on 18 July 2012

CRISPR-Cas9/long-read sequencing approach to identify cryptic mutations in BRCA1 and other tumour suppressor genes

scientific article published on 15 October 2020

Characteristics of women with ovarian carcinoma who have BRCA1 and BRCA2 mutations not identified by clinical testing

scientific article published on 19 December 2012

Clinically Complex LRBA Deficiency Due to a Founder Allele in the Georgian Jewish Population

scientific article published on 5 September 2022

ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing

scientific article

Complex MSH2 and MSH6 mutations in hypermutated microsatellite unstable advanced prostate cancer

scientific article

Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer

scientific article

DBC2, a candidate for a tumor suppressor gene involved in breast cancer

scientific article

Deep sequencing with intronic capture enables identification of an APC exon 10 inversion in a patient with polyposis

scientific article published on 27 March 2014

Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing

scientific article

Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy

scientific article published on 28 July 2021

FAM111B Mutation Is Associated With Inherited Exocrine Pancreatic Dysfunction

scientific article published on 22 October 2015

Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families

scientific article

Formation of chimeric genes by copy-number variation as a mutational mechanism in schizophrenia

scientific article published on October 2013

From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30

scientific article

Functional and genomic approaches reveal an ancient CHEK2 allele associated with breast cancer in the Ashkenazi Jewish population

scientific article published on 13 January 2005

GWA study data mining and independent replication identify cardiomyopathy-associated 5 (CMYA5) as a risk gene for schizophrenia

scientific article

Genetic characterization of early onset ovarian carcinoma

scientific article published on 21 December 2015

Genetics of congenital deafness in the Palestinian population: multiple connexin 26 alleles with shared origins in the Middle East

scientific article published on 8 February 2002

Genetics of schizophrenia in the South African Xhosa

scientific article published on 31 January 2020

Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population.

scientific article published on January 2006

Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity

scientific article

Genomic analysis of inherited hearing loss in the Palestinian population

scientific article published on 03 August 2020

Genomic duplication and overexpression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51.

scientific article

Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy

scientific article

Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas

scientific article

Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism

scientific article published on 16 March 2015

Identification of a new BRCA2 large genomic deletion associated with high risk male breast cancer

scientific article

Inherited Mutations in Women With Ovarian Carcinoma

scientific article

Inherited mutation of the luteinizing hormone/choriogonadotropin receptor (LHCGR) in empty follicle syndrome

scientific article

Inherited mutations in cancer susceptibility genes are common among survivors of breast cancer who develop therapy-related leukemia

scientific article

Inherited predisposition to breast cancer among African American women

scientific article

Loss of function germline mutations in RAD51D in women with ovarian carcinoma

scientific article published on 14 September 2012

Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature

scientific article published on 6 December 2011

MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes

scientific article

Methylation and protein expression of DNA repair genes: association with chemotherapy exposure and survival in sporadic ovarian and peritoneal carcinomas

scientific article

Microduplications of 16p11.2 are associated with schizophrenia

scientific article

Microsatellite instability in ductal carcinomain situ of the breast

scientific article published on 01 May 1998

Microsatellite instability in early sporadic breast cancer.

scientific article

Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease

scientific article

Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.

scientific article

Mutation of the ATP-gated P2X(2) receptor leads to progressive hearing loss and increased susceptibility to noise.

scientific article

Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing

scientific article

Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome

scientific article published on 28 March 2013

Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features

scientific article

Mutations in a novel isoform of TRIOBP that encodes a filamentous-actin binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss

scientific article

Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome

scientific article

Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome

scientific article

No linkage or linkage disequilibrium between brain-derived neurotrophic factor (BDNF) dinucleotide repeat polymorphism and schizophrenia in Irish families

scientific article

Nonsense mutation of the stereociliar membrane protein gene PTPRQ in human hearing loss DFNB84.

scientific article published on 14 May 2010

Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies

scientific journal article

OR13-002 Recessive mutations in CECR1, encoding adenosine deaminase 2 (ADA2), cause systemic and cutaneous polyarteritis nodosa (PAN).

scientific article

Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease

scientific article published on 28 March 2013

Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15.

scientific article

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

scientific article

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

scientific article

Reduced transcript expression of genes affected by inherited and de novo CNVs in autism

scientific article

Reply to Tzoulis et al.: Genetic and clinical heterogeneity of essential tremor

scientific article published on 30 March 2015

Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network

scientific article published on August 2013

Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1

scientific article published on 24 August 2020

Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer

scientific article published in March 2006

Strong association of de novo copy number mutations with autism

scientific article

Tamoxifen and breast cancer incidence among women with inherited mutations in BRCA1 and BRCA2: National Surgical Adjuvant Breast and Bowel Project (NSABP-P1) Breast Cancer Prevention Trial.

scientific article published in November 2001

Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy

scientific article published on 10 May 2013

Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families

scientific article

Ten genes for inherited breast cancer.

scientific article published in February 2007

The founder mutation MSH2*1906G-->C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population

scientific article

Validation and implementation of targeted capture and sequencing for the detection of actionable mutation, copy number variation, and gene rearrangement in clinical cancer specimens

scientific article published on 2 November 2013

Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82.

scientific article

List of works by Tom Walsh

A combined analysis of D22S278 marker alleles in affected sib-pairs: support for a susceptibility locus for schizophrenia at chromosome 22q12. Schizophrenia Collaborative Linkage Group (Chromosome 22).

A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation

A mosaic PTEN mutation causing Cowden syndrome identified by deep sequencing

A mouse model for human hearing loss DFNB30 due to loss of function of myosin IIIA

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

A truncating mutation in GPSM2 is associated with recessive non-syndromic hearing loss

Accurate and exact CNV identification from targeted high-throughput sequence data

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

Actionable, pathogenic incidental findings in 1,000 participants' exomes

Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X).

BRCA1 and BRCA2 Mutations in Ovarian Cancer

BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma

CRISPR-Cas9/long-read sequencing approach to identify cryptic mutations in BRCA1 and other tumour suppressor genes

Characteristics of women with ovarian carcinoma who have BRCA1 and BRCA2 mutations not identified by clinical testing

Clinically Complex LRBA Deficiency Due to a Founder Allele in the Georgian Jewish Population

ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing

Complex MSH2 and MSH6 mutations in hypermutated microsatellite unstable advanced prostate cancer

Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer

DBC2, a candidate for a tumor suppressor gene involved in breast cancer

Deep sequencing with intronic capture enables identification of an APC exon 10 inversion in a patient with polyposis

Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing

Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy

FAM111B Mutation Is Associated With Inherited Exocrine Pancreatic Dysfunction

Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families

Formation of chimeric genes by copy-number variation as a mutational mechanism in schizophrenia

From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30

Functional and genomic approaches reveal an ancient CHEK2 allele associated with breast cancer in the Ashkenazi Jewish population

GWA study data mining and independent replication identify cardiomyopathy-associated 5 (CMYA5) as a risk gene for schizophrenia

Genetic characterization of early onset ovarian carcinoma

Genetics of congenital deafness in the Palestinian population: multiple connexin 26 alleles with shared origins in the Middle East

Genetics of schizophrenia in the South African Xhosa

Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population.

Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity

Genomic analysis of inherited hearing loss in the Palestinian population

Genomic duplication and overexpression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51.

Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy

Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas

Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism

Identification of a new BRCA2 large genomic deletion associated with high risk male breast cancer

Inherited Mutations in Women With Ovarian Carcinoma

Inherited mutation of the luteinizing hormone/choriogonadotropin receptor (LHCGR) in empty follicle syndrome

Inherited mutations in cancer susceptibility genes are common among survivors of breast cancer who develop therapy-related leukemia

Inherited predisposition to breast cancer among African American women

Loss of function germline mutations in RAD51D in women with ovarian carcinoma

Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature

MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes

Methylation and protein expression of DNA repair genes: association with chemotherapy exposure and survival in sporadic ovarian and peritoneal carcinomas

Microduplications of 16p11.2 are associated with schizophrenia

Microsatellite instability in ductal carcinomain situ of the breast

Microsatellite instability in early sporadic breast cancer.

Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease

Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.

Mutation of the ATP-gated P2X(2) receptor leads to progressive hearing loss and increased susceptibility to noise.

Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing

Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome

Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features

Mutations in a novel isoform of TRIOBP that encodes a filamentous-actin binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss

Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome

Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome

No linkage or linkage disequilibrium between brain-derived neurotrophic factor (BDNF) dinucleotide repeat polymorphism and schizophrenia in Irish families

Nonsense mutation of the stereociliar membrane protein gene PTPRQ in human hearing loss DFNB84.

Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies

OR13-002 Recessive mutations in CECR1, encoding adenosine deaminase 2 (ADA2), cause systemic and cutaneous polyarteritis nodosa (PAN).

Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease

Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15.

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

Reduced transcript expression of genes affected by inherited and de novo CNVs in autism

Reply to Tzoulis et al.: Genetic and clinical heterogeneity of essential tremor

Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network

Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1

Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer

Strong association of de novo copy number mutations with autism

Tamoxifen and breast cancer incidence among women with inherited mutations in BRCA1 and BRCA2: National Surgical Adjuvant Breast and Bowel Project (NSABP-P1) Breast Cancer Prevention Trial.

Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy

Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families

Ten genes for inherited breast cancer.

The founder mutation MSH2*1906G-->C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population

Validation and implementation of targeted capture and sequencing for the detection of actionable mutation, copy number variation, and gene rearrangement in clinical cancer specimens